MCID: FML015
MIFTS: 48

Familial Nephrotic Syndrome

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Familial Nephrotic Syndrome

MalaCards integrated aliases for Familial Nephrotic Syndrome:

Name: Familial Nephrotic Syndrome 12 43 6 15
Congenital Nephrotic Syndrome 12 73 43
Nephrosis, Congenital 44 70
Finnish Congenital Nephrotic Syndrome 70

Classifications:



External Ids:

Disease Ontology 12 DOID:2590
MeSH 44 C535761
NCIt 50 C35337
SNOMED-CT 67 48796009
ICD10 32 N04
UMLS 70 C0403399 C3501848

Summaries for Familial Nephrotic Syndrome

MedlinePlus Genetics : 43 Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.Children with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.

MalaCards based summary : Familial Nephrotic Syndrome, also known as congenital nephrotic syndrome, is related to congenital nephrotic syndrome finnish type and pierson syndrome, and has symptoms including edema An important gene associated with Familial Nephrotic Syndrome is NPHS1 (NPHS1 Adhesion Molecule, Nephrin), and among its related pathways/superpathways are Cell junction organization and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include Kidney, lung and eye, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A nephrotic syndrome that has material basis in genetic mutations.

Wikipedia : 73 Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3... more...

Related Diseases for Familial Nephrotic Syndrome

Diseases in the Nephrotic Syndrome family:

Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 4
Nephrotic Syndrome, Type 20 Nephrotic Syndrome, Type 2
Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 6
Nephrotic Syndrome, Type 7 Nephrotic Syndrome, Type 8
Nephrotic Syndrome, Type 9 Nephrotic Syndrome, Type 10
Nephrotic Syndrome, Type 11 Nephrotic Syndrome, Type 12
Nephrotic Syndrome, Type 13 Nephrotic Syndrome, Type 14
Nephrotic Syndrome, Type 15 Nephrotic Syndrome, Type 16
Nephrotic Syndrome, Type 17 Nephrotic Syndrome, Type 18
Nephrotic Syndrome, Type 19 Nephrotic Syndrome, Type 21
Nephrotic Syndrome, Type 22 Nephrotic Syndrome, Type 23
Nephrotic Syndrome, Type 24 Familial Nephrotic Syndrome

Diseases related to Familial Nephrotic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 congenital nephrotic syndrome finnish type 32.9 TTC21B-AS1 TTC21B NPHS1 KIRREL2 FAT1 ALG1
2 pierson syndrome 32.5 WT1 PLCE1 NPHS2 NPHS1 INF2 CD2AP
3 nephrotic syndrome, type 10 32.0 PODXL NPHS2 NPHS1
4 nephrotic syndrome, type 2 31.8 PLCE1 NPHS2 NPHS1 INF2 CD2AP ACTN4
5 galloway-mowat syndrome 31.4 SYNPO PTPRO PLCE1 NPHS2 NPHS1 INF2
6 nephrotic syndrome, type 1 31.3 WT1 TTC21B-AS1 TTC21B NPHS2 NPHS1 KIRREL2
7 diffuse mesangial sclerosis 31.1 WT1 PLCE1 NPHS2 NPHS1
8 proteinuria, chronic benign 31.1 SYNPO NPHS2 NPHS1 KIRREL1 INF2 CD2AP
9 congenital syphilis 30.6 PLCE1 NPHS2 NPHS1
10 glomerular disease 30.5 CD2AP ACTN4
11 kidney disease 30.2 WT1 TTC21B TRPC6 NPHS2 NPHS1 INF2
12 wilms tumor 1 30.1 WT1 SYNPO PTPRO PODXL NPHS2 NPHS1
13 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.9 WT1 PODXL NPHS2 NPHS1 ACTN4
14 denys-drash syndrome 29.9 WT1 TRPC6 SYNPO PODXL PLCE1 NPHS2
15 genetic steroid-resistant nephrotic syndrome 29.9 WT1 TRPC6 PTPRO PLCE1 NPHS2 NPHS1
16 frasier syndrome 29.8 WT1 TRPC6 PLCE1 NPHS2 NPHS1 INF2
17 end stage renal disease 29.8 TRPC6 NPHS2 NPHS1 INF2 CD2AP ACTN4
18 lipoid nephrosis 29.7 TRPC6 SYNPO PODXL NPHS2 NPHS1 CD2AP
19 focal segmental glomerulosclerosis 1 29.4 TRPC6 PTPRO PLCE1 NPHS2 NPHS1 INF2
20 nephrotic syndrome 29.4 WT1 TTC21B-AS1 TTC21B TRPC6 SYNPO PTPRO
21 focal segmental glomerulosclerosis 29.0 WT1 TRPC6 SYNPO PTPRO PODXL PLCE1
22 nephrotic syndrome, type 4 11.1
23 nephrotic syndrome, type 20 11.1
24 nephrotic syndrome, type 3 11.1
25 nephrotic syndrome, type 6 11.1
26 nephrotic syndrome, type 5, with or without ocular abnormalities 11.1
27 nephrotic syndrome, type 7 11.1
28 nephrotic syndrome, type 8 11.1
29 nephrotic syndrome, type 9 11.1
30 nephrotic syndrome, type 11 11.1
31 nephrotic syndrome, type 12 11.1
32 nephrotic syndrome, type 13 11.1
33 nephrotic syndrome, type 14 11.1
34 nephrotic syndrome, type 15 11.1
35 nephrotic syndrome, type 16 11.1
36 nephrotic syndrome, type 17 11.1
37 nephrotic syndrome, type 18 11.1
38 nephrotic syndrome, type 19 11.1
39 nephrotic syndrome, type 21 11.1
40 nephrotic syndrome, type 22 11.1
41 nephrotic syndrome, type 23 11.1
42 microcoria, congenital 11.0
43 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.0
44 autosomal recessive disease 10.5
45 retinal aplasia 10.4 TTC21B-AS1 TTC21B
46 hypothyroidism 10.4
47 idiopathic steroid-resistant nephrotic syndrome 10.3 WT1 NPHS2 NPHS1
48 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 NPHS2 NPHS1 ACTN4
49 short-rib thoracic dysplasia 4 with or without polydactyly 10.3 TTC21B-AS1 TTC21B
50 progressive myoclonus epilepsy 4 10.3 KIRREL2 KIRREL1

Graphical network of the top 20 diseases related to Familial Nephrotic Syndrome:



Diseases related to Familial Nephrotic Syndrome

Symptoms & Phenotypes for Familial Nephrotic Syndrome

UMLS symptoms related to Familial Nephrotic Syndrome:


edema

MGI Mouse Phenotypes related to Familial Nephrotic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ACTN4 CD2AP FAT1 INF2 NCK1 NPHS2
2 growth/size/body region MP:0005378 9.73 ACTN4 CD2AP COQ8B FAT1 INF2 KIRREL1
3 renal/urinary system MP:0005367 9.47 ACTN4 CD2AP COQ8B FAT1 KIRREL1 KIRREL2

Drugs & Therapeutics for Familial Nephrotic Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Nephrotic Syndrome

Cochrane evidence based reviews: nephrosis, congenital

Genetic Tests for Familial Nephrotic Syndrome

Anatomical Context for Familial Nephrotic Syndrome

MalaCards organs/tissues related to Familial Nephrotic Syndrome:

40
Kidney, Lung, Eye, Placenta, Pituitary, Cortex, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Familial Nephrotic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate

Publications for Familial Nephrotic Syndrome

Articles related to Familial Nephrotic Syndrome:

(show top 50) (show all 784)
# Title Authors PMID Year
1
Treatment and outcome of congenital nephrotic syndrome. 61 6
29474669 2019
2
Analysis of 14 Patients With Congenital Nephrotic Syndrome. 61 6
31456999 2019
3
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6 61
28204945 2017
4
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. 6 61
28392951 2017
5
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 61 6
26560236 2016
6
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome. 61 6
27019444 2016
7
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. 6 61
26668027 2016
8
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. 6 61
25720465 2015
9
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. 61 6
25729976 2015
10
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation. 6 61
24682440 2014
11
Functional analysis of NPHS1 mutations in Japanese patients. 6 61
24142548 2014
12
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. 61 6
23949594 2013
13
Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions. 6 61
24303155 2013
14
Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. 61 6
21672106 2012
15
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. 6 61
22584503 2012
16
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 6 61
22009864 2011
17
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 6 61
20798252 2010
18
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 61 6
20172850 2010
19
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 6 61
20507940 2010
20
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 61 6
19812541 2009
21
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. 61 6
19321760 2009
22
Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss. 61 6
19423745 2009
23
Genetic forms of nephrotic syndrome: a single-center experience in Brussels. 6 61
18709391 2009
24
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. 6 61
19194555 2009
25
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 61 6
18503012 2008
26
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 61 6
18614772 2008
27
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). 61 6
17371932 2007
28
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 61 6
16518627 2006
29
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. 6 61
16316524 2005
30
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. 61 6
15906409 2005
31
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. 6 61
15780077 2005
32
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. 61 6
15338398 2004
33
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone. 61 6
15213260 2004
34
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 61 6
11854170 2002
35
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 61 6
11726550 2001
36
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. 61 6
11317351 2001
37
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. 61 6
10972661 2000
38
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 61 6
10652016 2000
39
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. 6 61
10577936 1999
40
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. 6 61
9915943 1999
41
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 61 6
9660941 1998
42
Adequate clinical control of congenital nephrotic syndrome by enalapril. 6 61
9543371 1998
43
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
44
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. 6
30013592 2018
45
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 6
28780565 2017
46
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 6
28117080 2017
47
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. 6
25407002 2015
48
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 6
25349199 2015
49
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
50
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. 6
25501161 2014

Variations for Familial Nephrotic Syndrome

ClinVar genetic disease variations for Familial Nephrotic Syndrome:

6 (show top 50) (show all 448)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPHS1 NPHS1, 1-BP INS, 3250G Insertion Pathogenic 6869 GRCh37:
GRCh38:
2 NPHS1 NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) SNV Pathogenic 6874 rs267606917 GRCh37: 19:36340185-36340185
GRCh38: 19:35849283-35849283
3 NPHS1 NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) SNV Pathogenic 430877 rs1131692245 GRCh37: 19:36335011-36335011
GRCh38: 19:35844109-35844109
4 NPHS1 NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) SNV Pathogenic 56420 rs386833864 GRCh37: 19:36339613-36339613
GRCh38: 19:35848711-35848711
5 NPHS1 NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter) SNV Pathogenic 992391 GRCh37: 19:36342384-36342384
GRCh38: 19:35851482-35851482
6 NPHS1 NM_004646.3(NPHS1):c.3523_3524del (p.Leu1175fs) Deletion Pathogenic 807454 rs1420307327 GRCh37: 19:36321816-36321817
GRCh38: 19:35830914-35830915
7 NPHS1 NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter) SNV Pathogenic 496273 rs749341977 GRCh37: 19:36340176-36340176
GRCh38: 19:35849274-35849274
8 NPHS1 NM_004646.4(NPHS1):c.3481+1G>T SNV Pathogenic 928578 GRCh37: 19:36321954-36321954
GRCh38: 19:35831052-35831052
9 NPHS1 NM_004646.4(NPHS1):c.1235del (p.Gly412fs) Deletion Pathogenic 843023 GRCh37: 19:36339235-36339235
GRCh38: 19:35848333-35848333
10 NPHS1 NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) Indel Pathogenic 56518 rs1555763603 GRCh37: 19:36340543-36340550
GRCh38: 19:35849641-35849648
11 NPHS1 NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) SNV Pathogenic 553429 rs762184939 GRCh37: 19:36330221-36330221
GRCh38: 19:35839319-35839319
12 NPHS1 NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) SNV Pathogenic 56513 rs386833951 GRCh37: 19:36341342-36341342
GRCh38: 19:35850440-35850440
13 NPHS1 NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) SNV Pathogenic 56505 rs386833943 GRCh37: 19:36341921-36341921
GRCh38: 19:35851019-35851019
14 NPHS1 NM_004646.3(NPHS1):c.2536_2539CTAA[1] (p.Thr847fs) Microsatellite Pathogenic 555946 rs1244884053 GRCh37: 19:36333146-36333149
GRCh38: 19:35842244-35842247
15 NPHS1 NM_004646.3(NPHS1):c.740G>A (p.Trp247Ter) SNV Pathogenic 813498 rs1599845689 GRCh37: 19:36340238-36340238
GRCh38: 19:35849336-35849336
16 NPHS1 NM_004646.3(NPHS1):c.609-2A>C SNV Pathogenic 56517 rs386833955 GRCh37: 19:36340557-36340557
GRCh38: 19:35849655-35849655
17 NPHS1 NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly) SNV Pathogenic 180463 rs730880174 GRCh37: 19:36336572-36336572
GRCh38: 19:35845670-35845670
18 NPHS1 NM_004646.3(NPHS1):c.2515del (p.Gln839fs) Deletion Pathogenic 56479 rs386833918 GRCh37: 19:36333174-36333174
GRCh38: 19:35842272-35842272
19 NPHS1 NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) SNV Pathogenic 56521 rs386833959 GRCh37: 19:36340242-36340242
GRCh38: 19:35849340-35849340
20 NPHS1 NM_004646.3(NPHS1):c.3250del (p.Val1084fs) Deletion Pathogenic 56496 rs386833935 GRCh37: 19:36322581-36322581
GRCh38: 19:35831679-35831679
21 NPHS1 NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) Duplication Pathogenic 56482 rs386833921 GRCh37: 19:36333081-36333082
GRCh38: 19:35842179-35842180
22 NPHS1 NM_004646.3(NPHS1):c.1758-8_1785del Deletion Pathogenic 56449 rs386833891 GRCh37: 19:36336415-36336450
GRCh38: 19:35845513-35845548
23 NPHS1 NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) SNV Pathogenic 56456 rs386833898 GRCh37: 19:36336272-36336272
GRCh38: 19:35845370-35845370
24 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
25 NPHS1 NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) SNV Pathogenic 6867 rs137853042 GRCh37: 19:36322260-36322260
GRCh38: 19:35831358-35831358
26 NPHS1 NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) SNV Pathogenic 6872 rs28939695 GRCh37: 19:36339044-36339044
GRCh38: 19:35848142-35848142
27 NPHS1 NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) SNV Pathogenic 6873 rs267606919 GRCh37: 19:36321958-36321958
GRCh38: 19:35831056-35831056
28 NPHS1 NM_004646.3(NPHS1):c.2335-1G>A SNV Pathogenic 188734 rs150038620 GRCh37: 19:36333453-36333453
GRCh38: 19:35842551-35842551
29 NPHS1 NM_004646.3(NPHS1):c.2479C>T (p.Arg827Ter) SNV Pathogenic 632927 rs140018064 GRCh37: 19:36333308-36333308
GRCh38: 19:35842406-35842406
30 NPHS1 NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) Duplication Pathogenic 56497 rs386833935 GRCh37: 19:36322580-36322581
GRCh38: 19:35831678-35831679
31 NPHS1 NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) Deletion Pathogenic 56431 rs386833873 GRCh37: 19:36342511-36342512
GRCh38: 19:35851609-35851610
32 NPHS1 NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) SNV Pathogenic 56421 rs386833865 GRCh37: 19:36339610-36339610
GRCh38: 19:35848708-35848708
33 NPHS1 NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) SNV Pathogenic/Likely pathogenic 56473 rs386833912 GRCh37: 19:36333370-36333370
GRCh38: 19:35842468-35842468
34 NPHS1 NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) SNV Pathogenic/Likely pathogenic 56453 rs386833895 GRCh37: 19:36336332-36336332
GRCh38: 19:35845430-35845430
35 NPHS1 NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) SNV Pathogenic/Likely pathogenic 56445 rs386833887 GRCh37: 19:36336627-36336627
GRCh38: 19:35845725-35845725
36 NPHS1 NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) SNV Pathogenic/Likely pathogenic 56438 rs386833880 GRCh37: 19:36339004-36339004
GRCh38: 19:35848102-35848102
37 NPHS1 NM_004646.3(NPHS1):c.2663+2T>G SNV Pathogenic/Likely pathogenic 496271 rs762392183 GRCh37: 19:36333024-36333024
GRCh38: 19:35842122-35842122
38 NPHS1 NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) SNV Pathogenic/Likely pathogenic 188761 rs138656762 GRCh37: 19:36330320-36330320
GRCh38: 19:35839418-35839418
39 NPHS1 NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) SNV Pathogenic/Likely pathogenic 189074 rs150855173 GRCh37: 19:36321994-36321994
GRCh38: 19:35831092-35831092
40 NPHS1 NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) SNV Pathogenic/Likely pathogenic 56523 rs386833961 GRCh37: 19:36340170-36340170
GRCh38: 19:35849268-35849268
41 NPHS1 NM_004646.3(NPHS1):c.1481del (p.Ser494fs) Deletion Pathogenic/Likely pathogenic 56441 rs386833883 GRCh37: 19:36337056-36337056
GRCh38: 19:35846154-35846154
42 NPHS1 NM_004646.3(NPHS1):c.619del (p.Arg207fs) Deletion Pathogenic/Likely pathogenic 370188 rs778217926 GRCh37: 19:36340545-36340545
GRCh38: 19:35849643-35849643
43 NPHS1 NM_004646.3(NPHS1):c.139del (p.Ala47fs) Deletion Pathogenic/Likely pathogenic 56440 rs386833882 GRCh37: 19:36342494-36342494
GRCh38: 19:35851592-35851592
44 NPHS1 NM_004646.3(NPHS1):c.515_517del (p.Thr172del) Deletion Pathogenic/Likely pathogenic 56509 rs386833947 GRCh37: 19:36341872-36341874
GRCh38: 19:35850970-35850972
45 NPHS1 NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) SNV Pathogenic/Likely pathogenic 188816 rs139598219 GRCh37: 19:36341309-36341309
GRCh38: 19:35850407-35850407
46 NPHS1 NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) SNV Likely pathogenic 56456 rs386833898 GRCh37: 19:36336272-36336272
GRCh38: 19:35845370-35845370
47 NPHS1 NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) SNV Likely pathogenic 56471 rs386833911 GRCh37: 19:36333383-36333383
GRCh38: 19:35842481-35842481
48 NPHS1 NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) SNV Likely pathogenic 56481 rs386833920 GRCh37: 19:36333093-36333093
GRCh38: 19:35842191-35842191
49 NPHS1 NM_004646.3(NPHS1):c.500C>T (p.Pro167Leu) SNV Likely pathogenic 56507 rs386833945 GRCh37: 19:36341889-36341889
GRCh38: 19:35850987-35850987
50 NPHS1 NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) SNV Likely pathogenic 56447 rs386833889 GRCh37: 19:36336613-36336613
GRCh38: 19:35845711-35845711

Expression for Familial Nephrotic Syndrome

Search GEO for disease gene expression data for Familial Nephrotic Syndrome.

Pathways for Familial Nephrotic Syndrome

GO Terms for Familial Nephrotic Syndrome

Cellular components related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 TRPC6 PTPRO PODXL PLCE1 NPHS2 NPHS1
2 cell projection GO:0042995 9.85 TTC21B SYNPO PODXL PLCE1 NPHS1 CD2AP
3 integral component of plasma membrane GO:0005887 9.81 TRPC6 PTPRO PODXL NPHS2 NPHS1 KIRREL3
4 perinuclear region of cytoplasm GO:0048471 9.8 KIRREL1 INF2 FAT1 CD2AP ACTN4
5 lamellipodium GO:0030027 9.56 PTPRO PODXL PLCE1 FAT1
6 cell-cell junction GO:0005911 9.56 NPHS2 NPHS1 NCK1 KIRREL3 KIRREL2 KIRREL1
7 slit diaphragm GO:0036057 9.02 TRPC6 PODXL NPHS2 NPHS1 KIRREL2

Biological processes related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.71 PODXL NCK1 FAT1 CD2AP
2 actin filament organization GO:0007015 9.61 NCK1 FAT1 CD2AP
3 glomerular basement membrane development GO:0032836 9.37 WT1 NPHS1
4 glomerular visceral epithelial cell development GO:0072015 9.32 PODXL NPHS1
5 substrate-dependent cell migration, cell extension GO:0006930 9.26 NCK1 CD2AP
6 glomerular visceral epithelial cell differentiation GO:0072112 9.16 WT1 PTPRO
7 glomerulus development GO:0032835 9.13 WT1 PTPRO PLCE1
8 cell-cell adhesion GO:0098609 9.1 NPHS1 KIRREL3 KIRREL2 KIRREL1 FAT1 CD2AP

Molecular functions related to Familial Nephrotic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.35 TRPC6 SYNPO NCK1 INF2 ACTN4
2 myosin binding GO:0017022 9.16 NPHS1 KIRREL1
3 cell adhesion molecule binding GO:0050839 8.92 NPHS1 KIRREL3 KIRREL2 KIRREL1

Sources for Familial Nephrotic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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